Canonical Allele Identifier: CA6277636
Gene: TIMM8B HGNC NCBI

Linked Data

dbSNP Id: rs368903806
ExAC: 11:111957496 C / T
gnomAD v2: 11-111957496-C-T
gnomAD v3: 11-112086772-C-T
gnomAD v4: 11-112086772-C-T
MyVariant Identifiers: chr11:g.111957496C>T (hg19) chr11:g.112086772C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112086772C>T , CM000673.2:g.112086772C>T GRCh38
NC_000011.9:g.111957496C>T , CM000673.1:g.111957496C>T GRCh37
NC_000011.8:g.111462706C>T NCBI36
NG_012337.2:g.4926C>T
NG_033145.1:g.5027G>A
NG_012337.3:g.4926C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000504148.2:c.-49G>A ENSP00000422122.2:n.-49G>A
ENST00000509359.6:c.-49G>A ENSP00000421964.2:n.-49G>A
ENST00000541231.1:c.-4G>A ENSP00000438455.1:n.-4G>A
NM_012459.2:c.-4G>A NP_036591.2:n.-4G>A
NR_028383.1:n.27G>A
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